The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium

ανά van Dam, Teunis JP, Wheway, Gabrielle, Slaats, Gisela G, Huynen, Martijn A, Giles, Rachel H
Έκδοση 2013

Urine-derived cells: a promising diagnostic tool in Fabry disease patients

ανά Slaats, Gisela G., Braun, Fabian, Hoehne, Martin, Frech, Laura E., Blomberg, Linda, Benzing, Thomas, Schermer, Bernhard, Rinschen, Markus M., Kurschat, Christine E.
Τόπος έκδοσης Sci Rep (2018)

NEK8 Links the ATR-regulated Replication Stress Response and S-phase CDK Activity to Renal Ciliopathies

ανά Choi, Hyo Jei Claudia, Lin, Jia-Ren, Vannier, Jean-Baptiste, Slaats, Gisela G., Kile, Andrew C., Paulsen, Renee D., Manning, Danielle K., Beier, David R., Giles, Rachel H., Boulton, Simon J., Cimprich, Karlene A.
Έκδοση 2013

Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis

ανά Slaats, Gisela G., Wheway, Gabrielle, Foletto, Veronica, Szymanska, Katarzyna, van Balkom, Bas W. M., Logister, Ive, Den Ouden, Krista, Keijzer-Veen, Mandy G., Lilien, Marc R., Knoers, Nine V., Johnson, Colin A., Giles, Rachel H.
Τόπος έκδοσης J Cell Sci (2015)

Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis

ανά Hynes, Ann Marie, Giles, Rachel H., Srivastava, Shalabh, Eley, Lorraine, Whitehead, Jennifer, Danilenko, Marina, Raman, Shreya, Slaats, Gisela G., Colville, John G., Ajzenberg, Henry, Kroes, Hester Y., Thelwall, Peter E., Simmons, Nicholas L., Miles, Colin G., Sayer, John A.
Έκδοση 2014

Renal-Retinal Ciliopathy Gene Sdccag8 Regulates DNA Damage Response Signaling

ανά Airik, Rannar, Slaats, Gisela G., Guo, Zhi, Weiss, Anna-Carina, Khan, Naheed, Ghosh, Amiya, Hurd, Toby W., Bekker-Jensen, Simon, Schrøder, Jacob M., Elledge, Steve J., Andersen, Jens S., Kispert, Andreas, Castelli, Maddalena, Boletta, Alessandra, Giles, Rachel H., Hildebrandt, Friedhelm
Έκδοση 2014

Nephronophthisis-Associated CEP164 Regulates Cell Cycle Progression, Apoptosis and Epithelial-to-Mesenchymal Transition

ανά Slaats, Gisela G., Ghosh, Amiya K., Falke, Lucas L., Le Corre, Stéphanie, Shaltiel, Indra A., van de Hoek, Glenn, Klasson, Timothy D., Stokman, Marijn F., Logister, Ive, Verhaar, Marianne C., Goldschmeding, Roel, Nguyen, Tri Q., Drummond, Iain A., Hildebrandt, Friedhelm, Giles, Rachel H.
Έκδοση 2014

DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome

ανά Slaats, Gisela G., Saldivar, Joshua C., Bacal, Julien, Zeman, Michelle K., Kile, Andrew C., Hynes, Ann Marie, Srivastava, Shalabh, Nazmutdinova, Jekaterina, den Ouden, Krista, Zagers, Miriam S., Foletto, Veronica, Verhaar, Marianne C., Miles, Colin, Sayer, John A., Cimprich, Karlene A., Giles, Rachel H.
Τόπος έκδοσης J Clin Invest (2015)

Non-invasive sources of cells with primary cilia from pediatric and adult patients

ανά Ajzenberg, Henry, Slaats, Gisela G., Stokman, Marijn F., Arts, Heleen H., Logister, Ive, Kroes, Hester Y., Renkema, Kirsten Y., van Haelst, Mieke M., Terhal, Paulien A., van Rooij, Iris A., Keijzer-Veen, Mandy G., Knoers, Nine V., Lilien, Marc R., Jewett, Michael A., Giles, Rachel H.
Τόπος έκδοσης Cilia (2015)

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

ανά Lambacher, Nils J., Bruel, Ange-Line, van Dam, Teunis J. P., Szymańska, Katarzyna, Slaats, Gisela G., Kuhns, Stefanie, McManus, Gavin J., Kennedy, Julie E., Gaff, Karl, Wu, Ka Man, van der Lee, Robin, Burglen, Lydie, Doummar, Diane, Rivière, Jean-Baptiste, Faivre, Laurence, Attié-Bitach, Tania, Saunier, Sophie, Curd, Alistair, Peckham, Michelle, Giles, Rachel H., Johnson, Colin A., Huynen, Martijn A., Thauvin-Robinet, Christel, Blacque, Oliver E.
Τόπος έκδοσης Nat Cell Biol (2015)

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

ανά Slaats, Gisela G., Isabella, Christine R., Kroes, Hester Y., Dempsey, Jennifer C., Gremmels, Hendrik, Monroe, Glen R., Phelps, Ian G., Duran, Karen J., Adkins, Jonathan, Kumar, Sairam A., Knutzen, Dana M., Knoers, Nine V., Mendelsohn, Nancy J., Neubauer, David, Mastroyianni, Sotiria D., Vogt, Julie, Worgan, Lisa, Karp, Natalya, Bowdin, Sarah, Glass, Ian A., Parisi, Melissa A., Otto, Edgar A., Johnson, Colin A., Hildebrandt, Friedhelm, van Haaften, Gijs, Giles, Rachel H., Doherty, Dan
Τόπος έκδοσης J Med Genet (2015)

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

ανά Zhou, Weibin, Otto, Edgar A., Cluckey, Andrew, Airik, Rannar, Hurd, Toby W., Chaki, Moumita, Diaz, Katrina, Lach, Francis P., Bennett, Geoffrey R., Gee, Heon Y., Ghosh, Amiya K., Natarajan, Sivakumar, Thongthip, Supawat, Veturi, Uma, Allen, Susan J., Janssen, Sabine, Ramaswami, Gokul, Dixon, Joanne, Burkhalter, Felix, Spoendlin, Martin, Moch, Holger, Mihatsch, Michael J., Verine, Jerome, Reade, Richard, Soliman, Hany, Godin, Michel, Kiss, Denes, Monga, Guido, Mazzucco, Gianna, Amann, Kerstin, Artunc, Ferruh, Newland, Ronald C., Wiech, Thorsten, Zschiedrich, Stefan, Huber, Tobias B., Friedl, Andreas, Slaats, Gisela G., Joles, Jaap A., Goldschmeding, Roel, Washburn, Joseph, Giles, Rachel H., Levy, Shawn, Smogorzewska, Agata, Hildebrandt, Friedhelm
Έκδοση 2012

CiliaCarta: An integrated and validated compendium of ciliary genes

ανά van Dam, Teunis J. P., Kennedy, Julie, van der Lee, Robin, de Vrieze, Erik, Wunderlich, Kirsten A., Rix, Suzanne, Dougherty, Gerard W., Lambacher, Nils J., Li, Chunmei, Jensen, Victor L., Leroux, Michel R., Hjeij, Rim, Horn, Nicola, Texier, Yves, Wissinger, Yasmin, van Reeuwijk, Jeroen, Wheway, Gabrielle, Knapp, Barbara, Scheel, Jan F., Franco, Brunella, Mans, Dorus A., van Wijk, Erwin, Képès, François, Slaats, Gisela G., Toedt, Grischa, Kremer, Hannie, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantinos, Ueffing, Marius, Nguyen, Thanh-Minh T., Letteboer, Stef J. F., Oud, Machteld M., van Beersum, Sylvia E. C., Schmidts, Miriam, Beales, Philip L., Lu, Qianhao, Giles, Rachel H., Szklarczyk, Radek, Russell, Robert B., Gibson, Toby J., Johnson, Colin A., Blacque, Oliver E., Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald, Hernandez-Hernandez, Victor, Huynen, Martijn A.
Τόπος έκδοσης PLoS One (2019)

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

ανά Chaki, Moumita, Airik, Rannar, Ghosh, Amiya K., Giles, Rachel H., Chen, Rui, Slaats, Gisela G., Wang, Hui, Hurd, Toby W., Zhou, Weibin, Cluckey, Andrew, Gee, Heon-Yung, Ramaswami, Gokul, Hong, Chen-Jei, Hamilton, Bruce A., Červenka, Igor, Ganji, Ranjani Sri, Bryja, Vitezslav, Arts, Heleen H., van Reeuwijk, Jeroen, Oud, Machteld M., Letteboer, Stef J.F., Roepman, Ronald, Husson, Hervé, Ibraghimov-Beskrovnaya, Oxana, Ysunaga, Takayuki, Walz, Gerd, Eley, Lorraine, Sayer, John A., Schermer, Bernhard, Liebau, Max C., Benzing, Thomas, Le Corre, Stephanie, Drummond, Iain, Joles, Jaap A., Janssen, Sabine, Allen, Susan J., Natarajan, Sivakumar, O Toole, John F., Attanasio, Massimo, Saunier, Sophie, Antignac, Corinne, Koenekoop, Robert K., Ren, Huanan, Lopez, Irma, Nayir, Ahmet, Stoetzel, Corinne, Dollfus, Helene, Massoudi, Rustin, Gleeson, Joseph G., Andreoli, Sharon P., Doherty, Dan G., Lindstrad, Anna, Golzio, Christelle, Katsanis, Nicholas, Pape, Lars, Abboud, Emad B., Al-Rajhi, Ali A., Lewis, Richard A., Lupski, James R., Omran, Heymut, Lee, Eva, Wang, Shaohui, Sekiguchi, JoAnn M., Saunders, Rudel, Johnson, Colin A., Garner, Elizabeth, Vanselow, Katja, Andersen, Jens S., Shlomai, Joseph, Nurnberg, Gudrun, Nurnberg, Peter, Levy, Shawn, Smogorzewska, Agata, Otto, Edgar A., Hildebrandt, Friedhelm
Έκδοση 2012

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

ανά Wheway, Gabrielle, Schmidts, Miriam, Mans, Dorus A., Szymanska, Katarzyna, Nguyen, Thanh-Minh T., Racher, Hilary, Phelps, Ian G., Toedt, Grischa, Kennedy, Julie, Wunderlich, Kirsten A., Sorusch, Nasrin, Abdelhamed, Zakia A., Natarajan, Subaashini, Herridge, Warren, van Reeuwijk, Jeroen, Horn, Nicola, Boldt, Karsten, Parry, David A., Letteboer, Stef J.F., Roosing, Susanne, Adams, Matthew, Bell, Sandra M., Bond, Jacquelyn, Higgins, Julie, Morrison, Ewan E., Tomlinson, Darren C., Slaats, Gisela G., van Dam, Teunis J. P., Huang, Lijia, Kessler, Kristin, Giessl, Andreas, Logan, Clare V., Boyle, Evan A., Shendure, Jay, Anazi, Shamsa, Aldahmesh, Mohammed, Al Hazzaa, Selwa, Hegele, Robert A., Ober, Carole, Frosk, Patrick, Mhanni, Aizeddin A., Chodirker, Bernard N., Chudley, Albert E., Lamont, Ryan, Bernier, Francois P., Beaulieu, Chandree L., Gordon, Paul, Pon, Richard T., Donahue, Clem, Barkovich, A. James, Wolf, Louis, Toomes, Carmel, Thiel, Christian T., Boycott, Kym M., McKibbin, Martin, Inglehearn, Chris F., Stewart, Fiona, Omran, Heymut, Huynen, Martijn A., Sergouniotis, Panagiotis I., Alkuraya, Fowzan S., Parboosingh, Jillian S., Innes, A Micheil, Willoughby, Colin E., Giles, Rachel H., Webster, Andrew R., Ueffing, Marius, Blacque, Oliver, Gleeson, Joseph G., Wolfrum, Uwe, Beales, Philip L., Gibson, Toby, Doherty, Dan, Mitchison, Hannah M., Roepman, Ronald, Johnson, Colin A.
Τόπος έκδοσης Nat Cell Biol (2015)